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NM_007214.5(SEC63):c.1936-8G>T AND Autosomal dominant medullary cystic kidney disease with or without hyperuricemia

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 24, 2018
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001328095.1

Allele description [Variation Report for NM_007214.5(SEC63):c.1936-8G>T]

NM_007214.5(SEC63):c.1936-8G>T

Gene:
SEC63:SEC63 homolog, protein translocation regulator [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q21
Genomic location:
Preferred name:
NM_007214.5(SEC63):c.1936-8G>T
HGVS:
  • NC_000006.12:g.107876670C>A
  • NG_008270.1:g.86609G>T
  • NM_007214.5:c.1936-8G>TMANE SELECT
  • NC_000006.11:g.108197874C>A
  • NM_007214.4:c.1936-8G>T
Links:
dbSNP: rs115710123
NCBI 1000 Genomes Browser:
rs115710123
Molecular consequence:
  • NM_007214.5:c.1936-8G>T - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

Condition(s)

Name:
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
Identifiers:
MONDO: MONDO:0008264; MedGen: C4511620; Orphanet: 34149

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001449417Sydney Genome Diagnostics, Children's Hospital Westmead
no assertion criteria provided
Uncertain significance
(Oct 24, 2018) 		unknownclinical testing

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Sydney Genome Diagnostics, Children's Hospital Westmead, SCV001449417.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

This patient is heterozygous for a variant of unknown clinical significance (VOUS), c.1936-8G>T, in the SEC63 gene. To our knowledge, the c.1936-8G>T variant has not been previously reported to be associated with disease and there is no frequency data available. It is unclear if this variant will alter splicing or is a non-pathogenic variant. In silico analysis (using Alamutv2.6) predicts that this variant does not affect splicing, however, this analysis alone cannot be used to exclude pathogenicity.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jan 19, 2025